Y chromosome homogeneity in the Korean population
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The distribution of Y-chromosomal variation from the 12 Y-SNP and 17 Y-STR markers was determined in six major provinces (Seoul-Gyeonggi, Gangwon, Chungcheong, Jeolla, Gyeongsang, and Jeju) to evaluate these populations’ possible genetic structure and differentiation in Korea. As part of the present study, a 10-plex SNaPshot assay and two singleplex SNaPshot assays were developed. Based on the result of 12 Y-SNP markers (M9, M45, M89, M119, M122, M174, M175, M214, RPS4Y, P31, SRY465, and 47z), almost 78.9% of tested samples belonged to haplogroup O-M175 (including its subhaplogroups O3-M122: 44.3%, O2b*-SRY465: 22.5%, O2b1-47z: 8.7%), and 12.6% of the tested samples belonged to haplogroup C-RPS4Y. A total of 475 haplotypes were identified using 17 Y-STR markers included in the Yfiler kit, among which 452 (95.2%) were individual-specific. The overall haplotype diversity for the 17 Y-STR loci was 0.9997 and the discrimination capacity was 0.9387. Pairwise genetic distances and AMOVA of the studied Korean provinces reflected no patrilineal substructure in Korea, except for Jeju Island. Thus, this survey shows that the present data of Korean individuals could be helpful to establish a comprehensive forensic reference database for frequency estimation.
KeywordsY chromosome SNP STR Forensic genetics Population structure Koreans
The authors would like to thank all volunteers for providing DNA samples. They also thank K.C. Kim and N.Y. Kim for technical assistance and data analysis of this survey. The present research was conducted by the research fund of Dankook University in 2009.
- 1.Gusmão L, Butler JM, Carracedo A, Gill P, Kayser M, Mayr WR, Morling N, Prinz M, Roewer L, Tyler-Smith C, Schneider PM (2006) DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations of the use of Y-STRs in forensic analysis. Int J Leg Med 120:191–200CrossRefGoogle Scholar
- 2.Roewer L, Willuweit S, Krüger C, Nagy M, Rychkov S, Morozowa I, Naumova O, Schneider Y, Zhukova O, Stoneking M, Nasidze I (2008) Analysis of Y chromosome STR haplotypes in the European part of Russia reveals high diversities but non-significant genetic distances between populations. Int J Leg Med 122:219–223CrossRefGoogle Scholar
- 7.Mizuno N, Kitayanma T, Fujii K, Nakahara H, Yoshida K, Sekiguchi K, Yonezawa N, Nakano M, Kasai K (2010) A forensic method for the simultaneous analysis of biallelic markers identifying Y chromosome haplogroups inferred as having originated in Asia and the Japanese archipelago. Forensic Sci Int Genet 4:73–79CrossRefPubMedGoogle Scholar
- 9.Ferri G, Tofanelli S, Alù M, Taglioli L, Radheshi E, Corradini B, Paoli G, Capelli C, Beduschi G (2010) Y-STR variation in Albanian populations: implications on the match probabilities and the genetic legacy of the minority claiming an Egyptian descent. Int J Leg Med. doi: 10.1007/s00414-010-0432-x Google Scholar
- 13.Nei M (1987) Molecular evolutionary genetics. Columbia University, New YorkGoogle Scholar
- 16.Hong SB, Jin HJ, Kwak KD, Kim W (2006) Y-chromosome haplogroup O3-M122 variation in East Asia and its implications for the peopling of Korea. Korean J Genet 28:1–8Google Scholar